"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CCDC160 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 752103	NM_001353453.3(CCDC160):c.854del (p.Leu285fs)	CCDC160 (L285fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3245602	NC_000023.10:g.(?_132670152)_(133634107_?)del	CCDC160, GPC3 +4 more	Deletion	Wilms tumor 1	GPathogenic
Select item 2422566	NC_000023.10:g.(?_132670152)_(133634107_?)dup	CCDC160, GPC3 +4 more	Duplication	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 1076613	NC_000023.10:g.(?_132670132)_(133634127_?)del	CCDC160, GPC3 +4 more	Deletion	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GPathogenic

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